Varaico: Literature-Extracted Genetic Variants

SLC39A4

149 papers

RefSeq Summary

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations...

Pfam Domains

ZIP4_domainaa 46–196UCSCZinc transporter ZIP4 domain

EF-hand_Zipaa 202–308UCSCZip protein EF-hand

Zipaa 325–639UCSCZIP Zinc transporter

Gene Aliases

HGNC Name

solute carrier family 39 member 4

HGNC Previous Symbol

AEZ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_130849.4

p.F647L

c.1941C>A

Surrounding Variants

1 paper

NM_130849.4

p.F647L

c.1941C>G

1 paper

NM_130849.4

p.F647L

c.1939T>C

1 paper

NM_130849.4

p.G631V

c.1892G>T

1 paper

NM_130849.4

p.G631S

c.1891G>A

10 papers

NM_130849.4

p.G630R

c.1888G>C

1 paper

NM_130849.4

p.V626_G627ins7

c.1878_1879ins21

1 paper

NM_130849.4

p.H624Q

c.1872C>G

1 paper

NM_130849.4

p.H624Q

c.1872C>A

1 paper

NM_130849.4

p.P615Q

c.1844C>A

1 paper

NM_130849.4

p.P615S

c.1843C>T

1 paper

NM_130849.4

p.K611R

c.1832A>G

1 paper

NM_130849.4

p.A608delFs

c.1822delC